ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095157
Gene: COL17A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002279930
ClinVar Variation:
17657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Gly633Asp
CA258054
NM_000494.4:c.1898G>A